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Screening Most of the allied diseases are inherited as autosomal recessive disorders. This means that the disease occurs when both parents are carriers of the faulty gene and each parent transmits a copy of the faulty gene to their child.
Many children with the diseases are born to parents who did not know that they were carriers and did not have a family history of the disease. Carrier parents don't have the disease themselves, but can still pass on the faulty gene to their children who could then also be carriers. Both parents must be carriers of the same disease to have an affected child. Male and female children have an equal chance of being affected. These carrier couples have a 1 in 4 chance of conceiving a child with that disease with each pregnancy. They have a 2 in 4 (50%) chance of having a healthy child who is a carrier and another 1 in 4 (25%) chance, with each pregnancy, of having a healthy child who is not a carrier.  CATSAD is also involved in campaigns to increase carrier screening. We know that sharing information is a powerful tool in the prevention of these diseases and in support to our members. Please contact us to learn more. What do I need to know about ethnicity and genetic disease? Various ethnic populations have a greater incidence of particular genetic diseases. Recessive diseases such as Tay-Sachs often occur more frequently, but not exclusively, in a specific population. The carrier rate for Tay-Sachs disease is approximately 1 in 250 in the general population, but it is estimated to be as high as 1 in 27 among Ashkenazi Jews (of Eastern or Central European descent), French-Canadians and Cajuns. The carrier rate for Canavan disease in the Ashkenazi population is about 1 in 60. The carrier rate for most other inherited neurodegenerative diseases of children is about 1 in 100 to 1 in 200 in the general population. Should I be tested? For some of the allied diseases, testing can identify if you carry the faulty gene for the disease. This is usually done through a blood test and can be arranged through your doctor or local genetics centre. If you or your partner is in a high risk group for a particular disease or if you have a family history of genetic disease, genetic counselling is recommended, preferably before pregnancy. If you are found to be a carrier, you may decide to tell your relatives so they can be tested as well. Testing availability varies from province to province. |
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| For more information, please contact us: CATSAD P.O. Box 80043 Appleby Postal Outlet Burlington, ON L7L 6B1 email:info@catsad.ca website:http://www.catsad.ca CATSAD Brochure |
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| Home | About the Diseases | How these genetic diseases passed on | Screening | CATSAD | Family Services| Parent Peer Groups | Resources | News | Making a Difference |
| Canadian Association for Tay-Sachs and Allied Diseases, Inc. | P.O. Box 80043, Appleby Postal Outlet, Burlington, ON L7L 6B1 | email:info@catsad.ca |
